Aagaard-Tillery Kjersti M, Malone Fergal D, Nyberg David A, Porter T Flint, Cuckle Howard S, Fuchs Karin, Sullivan Lisa, Comstock Christine H, Saade George R, Eddleman Keith, Gross Susan, Dugoff Lorraine, Craigo Sabrina D, Timor-Tritsch Ilan E, Carr Stephen R, Wolfe Honor M, Bianchi Diana W, D'Alton Mary E
From the University of Utah, Salt Lake City, Utah; Royal College of Surgeons in Ireland, Dublin, Ireland; Swedish Medical Center, Seattle, Washington; University of California, San Francisco, California; Columbia University, New York, New York; DM-STAT, Malden, Massachusetts; William Beaumont Hospital, Royal Oak, Michigan; University of Texas Medical Branch at Galveston, Texas; Mount Sinai Medical Center, New York, New York; Albert Einstein College of Medicine, Bronx, New York; University of Colorado Health Sciences Center, Denver, Colorado; Tufts University, Boston, Massachusetts; NYU Medical Center, New York, New York; Brown University, Providence, Rhode Island; and University of North Carolina at Chapel Hill, North Carolina.
Obstet Gynecol. 2009 Dec;114(6):1189-1196. doi: 10.1097/AOG.0b013e3181c15064.
To estimate the effectiveness of second-trimester genetic sonography in modifying Down syndrome screening test results.
The First and Second Trimester Evaluation of Risk (FASTER) aneuploidy screening trial participants were studied from 13 centers where a 15- to 23-week genetic sonogram was performed in the same center. Midtrimester Down syndrome risks were estimated for five screening test policies: first-trimester combined, second-trimester quadruple, and testing sequentially by integrated, stepwise, or contingent protocols. The maternal age-specific risk and the screening test risk were modified using likelihood ratios derived from the ultrasound findings. Separate likelihood ratios were obtained for the presence or absence of at least one major fetal structural malformation and for each "soft" sonographic marker statistically significant at the P<.005 level. Detection and false-positive rate were calculated for the genetic sonogram alone and for each test before and after risk modification.
A total of 7,842 pregnancies were studied, including 59 with Down syndrome. Major malformations and 8 of the 18 soft markers evaluated were highly significant. The detection rate for a 5% false-positive rate for the genetic sonogram alone was 69%; the detection rate increased from 81% to 90% with the combined test, from 81% to 90% with the quadruple test, from 93% to 98% with the integrated test, from 97% to 98% with the stepwise test, and from 95% to 97% with the contingent test. The stepwise and contingent use of the genetic sonogram after first-trimester screening both yielded a 90% detection rate.
Genetic sonography can increase detection rates substantially for combined and quadruple tests and more modestly for sequential protocols. Substituting sonography for quadruple markers in sequential screening was not useful.
II.
评估孕中期基因超声检查对唐氏综合征筛查试验结果的修正效果。
对来自13个中心的早孕期和中孕期风险评估（FASTER）非整倍体筛查试验参与者进行研究，这些中心在同一机构进行了15至23周的基因超声检查。针对五种筛查试验策略评估孕中期唐氏综合征风险：早孕期联合筛查、孕中期四联筛查，以及通过整合、逐步或 contingent 方案进行序贯检测。利用超声检查结果得出的似然比来修正特定产妇年龄风险和筛查试验风险。针对是否存在至少一种主要胎儿结构畸形以及在P<0.005水平具有统计学意义的每个“软”超声标记物，分别得出似然比。计算单独基因超声检查以及风险修正前后每项试验的检出率和假阳性率。
共研究了7842例妊娠，其中59例为唐氏综合征。评估的18个软标记物中有8个以及主要畸形具有高度显著性。单独基因超声检查在5%假阳性率时的检出率为69%；联合试验的检出率从81%增至90%，四联试验从81%增至90%，整合试验从93%增至98%，逐步试验从97%增至98%，contingent 试验从95%增至97%。早孕期筛查后逐步和 contingent 使用基因超声检查的检出率均为90%。
基因超声检查可大幅提高联合试验和四联试验的检出率，对序贯方案的提高幅度较小。在序贯筛查中用超声检查替代四联标记物并无用处。
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